Subependymal giant cell astrocytoma overview: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
==Diagnostic Criteria== | ===Diagnostic Criteria=== | ||
The diagnosis of subependymal giant cell astrocytoma is based on the International Tuberous Sclerosis Complex Consensus criteria, which include a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. Most subependymal giant cell astrocytomas will show avid enhancement after contrast administration; however, a growing subependymal lesion even in the absence of enhancement should be considered a subependymal giant cell astrocytoma.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> | The diagnosis of subependymal giant cell astrocytoma is based on the International Tuberous Sclerosis Complex Consensus criteria, which include a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. Most subependymal giant cell astrocytomas will show avid enhancement after contrast administration; however, a growing subependymal lesion even in the absence of enhancement should be considered a subependymal giant cell astrocytoma.<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> | ||
==Staging== | ===Staging=== | ||
There is no established system for the staging of subependymal giant cell astrocytoma.<ref name="pmid18533376">{{cite journal| author=Chandana SR, Movva S, Arora M, Singh T| title=Primary brain tumors in adults. | journal=Am Fam Physician | year= 2008 | volume= 77 | issue= 10 | pages= 1423-30 | pmid=18533376 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18533376 }} </ref> | There is no established system for the staging of subependymal giant cell astrocytoma.<ref name="pmid18533376">{{cite journal| author=Chandana SR, Movva S, Arora M, Singh T| title=Primary brain tumors in adults. | journal=Am Fam Physician | year= 2008 | volume= 77 | issue= 10 | pages= 1423-30 | pmid=18533376 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18533376 }} </ref> | ||
==History and Symptoms== | ===History and Symptoms=== | ||
When evaluating a patient for subependymal giant cell astrocytoma, you should take a detailed history of the presenting symptom (onset, duration, and progression), other associated symptoms, and a thorough family and past medical history review. Other specific areas of focus when obtaining the history include review of common associated conditions such as [[tuberous sclerosis]].<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> Symptoms of subependymal giant cell astrocytoma include [[headache]], [[seizures]], [[vision loss]], [[Aphasia|changes in speech]], [[weakness|weakness in limbs]], and [[sensory loss]].<ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </ref><ref name=symptomsofsegafghfh>Symptoms of subependymal giant cell astrocytoma. University of Pittsburgh Medical Center 2015. http://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/pages/subependymal-giant-cell-astrocytoma.aspx. Accessed on November 5, 2015</ref> | When evaluating a patient for subependymal giant cell astrocytoma, you should take a detailed history of the presenting symptom (onset, duration, and progression), other associated symptoms, and a thorough family and past medical history review. Other specific areas of focus when obtaining the history include review of common associated conditions such as [[tuberous sclerosis]].<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> Symptoms of subependymal giant cell astrocytoma include [[headache]], [[seizures]], [[vision loss]], [[Aphasia|changes in speech]], [[weakness|weakness in limbs]], and [[sensory loss]].<ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref><ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </ref><ref name=symptomsofsegafghfh>Symptoms of subependymal giant cell astrocytoma. University of Pittsburgh Medical Center 2015. http://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/pages/subependymal-giant-cell-astrocytoma.aspx. Accessed on November 5, 2015</ref> | ||
==Physical examination== | ===Physical examination=== | ||
Common physical examination findings of subependymal giant cell astrocytoma include [[papilledema]], [[vision loss|vision field defects]], [[developmental delay]], [[mental retardation]], [[aphasia]], [[sensory loss]], and [[hemiparesis]].<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref> | Common physical examination findings of subependymal giant cell astrocytoma include [[papilledema]], [[vision loss|vision field defects]], [[developmental delay]], [[mental retardation]], [[aphasia]], [[sensory loss]], and [[hemiparesis]].<ref name="SasongkoIsmail2015">{{cite journal|last1=Sasongko|first1=Teguh Haryo|last2=Ismail|first2=Nur Farrah Dila|last3=Nik Abdul Malik|first3=Nik Mohamad Ariff|last4=Zabidi-Hussin|first4=Z. A. M. H.|title=Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis|journal=Orphanet Journal of Rare Diseases|volume=10|issue=1|year=2015|issn=1750-1172|doi=10.1186/s13023-015-0317-7}}</ref><ref name="OuyangZhang2014">{{cite journal|last1=Ouyang|first1=Taohui|last2=Zhang|first2=Na|last3=Benjamin|first3=Thomas|last4=Wang|first4=Long|last5=Jiao|first5=Jiantong|last6=Zhao|first6=Yiqing|last7=Chen|first7=Jian|title=Subependymal giant cell astrocytoma: current concepts, management, and future directions|journal=Child's Nervous System|volume=30|issue=4|year=2014|pages=561–570|issn=0256-7040|doi=10.1007/s00381-014-2383-x}}</ref> | ||
==Laboratory Findings== | ===Laboratory Findings=== | ||
There are no diagnostic lab findings associated with subependymal giant cell astrocytoma. | There are no diagnostic lab findings associated with subependymal giant cell astrocytoma. | ||
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Head CT scan may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the [[foramen of Monro]], which is iso- or slightly hypoattenuating to the grey matter. Accompanying [[hydrocephalus]] may be present. There is marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic CT features of subependymal giant cell astrocytoma. Dr Bruno Di Muzio and Dr Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015</ref> | Head CT scan may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the [[foramen of Monro]], which is iso- or slightly hypoattenuating to the grey matter. Accompanying [[hydrocephalus]] may be present. There is marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic CT features of subependymal giant cell astrocytoma. Dr Bruno Di Muzio and Dr Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015</ref> | ||
==MRI== | ===MRI=== | ||
Brain MRI is helpful in the diagnosis of subependymal giant cell astrocytoma. On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic MRI features of subependymal giant cell astrocytoma. Dr Bruno Di Muzio and Dr Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015</ref> | Brain MRI is helpful in the diagnosis of subependymal giant cell astrocytoma. On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration.<ref name=CTfindings1>Radiographic MRI features of subependymal giant cell astrocytoma. Dr Bruno Di Muzio and Dr Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015</ref> | ||
==Ultrasound== | ===Ultrasound=== | ||
There are no ultrasound findings associated with subependymal giant cell astrocytoma. | There are no ultrasound findings associated with subependymal giant cell astrocytoma. | ||
==Other Imaging Findings== | ===Other Imaging Findings=== | ||
There are no other imaging findings associated with subependymal giant cell astrocytoma. | There are no other imaging findings associated with subependymal giant cell astrocytoma. | ||
==Other Diagnostic Studies== | ===Other Diagnostic Studies=== | ||
There are no other diagnostic studies associated with subependymal giant cell astrocytoma. | There are no other diagnostic studies associated with subependymal giant cell astrocytoma. | ||
==Treatment== | ==Treatment== | ||
==Medical Therapy== | ===Medical Therapy=== | ||
The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref><ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </ref> | The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref><ref name="pmid23391693">{{cite journal| author=Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management| title=Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. | journal=Eur J Paediatr Neurol | year= 2013 | volume= 17 | issue= 4 | pages= 348-52 | pmid=23391693 | doi=10.1016/j.ejpn.2012.12.008 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23391693 }} </ref> | ||
==Surgery== | ===Surgery=== | ||
[[Surgery]] is the mainstay of treatment for subependymal giant cell astrocytoma. [[Gamma Knife|Gamma knife radiosurgery]] has also been used to treat subependymal giant cell astrocytoma.<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref> | [[Surgery]] is the mainstay of treatment for subependymal giant cell astrocytoma. [[Gamma Knife|Gamma knife radiosurgery]] has also been used to treat subependymal giant cell astrocytoma.<ref name="pmid21465222">{{cite journal| author=Campen CJ, Porter BE| title=Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. | journal=Curr Treat Options Neurol | year= 2011 | volume= 13 | issue= 4 | pages= 380-5 | pmid=21465222 | doi=10.1007/s11940-011-0123-z | pmc=PMC3130084 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21465222 }} </ref> | ||
==Primary Prevention== | ===Primary Prevention=== | ||
There is no established method for prevention of subependymal giant cell astrocytoma. | There is no established method for prevention of subependymal giant cell astrocytoma. | ||
==Secondary Prevention== | ===Secondary Prevention=== | ||
Effective measures for the secondary prevention of subependymal giant cell astrocytoma include brain imaging, preferably [[MRI|magnetic resonance imaging]] with and without contrast, which should be performed every 1 to 3 years until the age of 25 years in every patient with [[tuberous sclerosis]].<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> | Effective measures for the secondary prevention of subependymal giant cell astrocytoma include brain imaging, preferably [[MRI|magnetic resonance imaging]] with and without contrast, which should be performed every 1 to 3 years until the age of 25 years in every patient with [[tuberous sclerosis]].<ref name="RothRoach2013">{{cite journal|last1=Roth|first1=Jonathan|last2=Roach|first2=E. Steve|last3=Bartels|first3=Ute|last4=Jóźwiak|first4=Sergiusz|last5=Koenig|first5=Mary Kay|last6=Weiner|first6=Howard L.|last7=Franz|first7=David N.|last8=Wang|first8=Henry Z.|title=Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012|journal=Pediatric Neurology|volume=49|issue=6|year=2013|pages=439–444|issn=08878994|doi=10.1016/j.pediatrneurol.2013.08.017}}</ref> | ||
Revision as of 20:09, 20 November 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Overview
Subependymal giant cell astrocytoma is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain.[1] Russell et al was the first scientist to coin the term "subependymal giant cell astrocytoma".[2] Subependymal giant cell astrocytoma is believed to arise from a subependymal nodule present in the ventricular wall of a patient with tuberous sclerosis.[3][4] Genes involved in the pathogenesis of subependymal giant cell astrocytoma include TSC1 and TSC2. Subependymal giant cell astrocytoma is almost exclusively associated with tuberous sclerosis complex, which is an autosomal dominant disorder.[5] On gross pathology, subependymal giant cell astrocytoma is characterized by a large, fleshy, well-circumscribed intraventricular mass in the wall of the lateral ventricle near the foramen of Monro, that does not invade into the periventricular parenchyma.[6][7] On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by three types of cells (fibrillated elongated spindle cells, swollen gemistocytic-like cells, and giant ganglion-like cells) with nuclear pseudoinclusions and rosettes, perivascular inflammatory cells, and glassy eosinophilic cytoplasm.[2][8] Subependymal giant cell astrocytoma is demonstrated by positivity to tumor markers such as GFAP, vimentin, S-100, neurofilament, and synaptophysin.[9][10][4][11] Subependymal giant cell astrocytoma must be differentiated from subependymal nodule, ependymoma, colloid cyst, tuberculoma, intraventricular hemorrhage, glioblastoma multiforme, primary CNS lymphoma, and cerebral metastases.[12][13][14] The incidence of subependymal giant cell astrocytoma is approximately 2.5 per 100,000 individuals in the United States.[5] Subependymal giant cell astrocytoma is a disease that tends to affect the pediatric, adolescent, and young adult population.[15][16] Males are more commonly affected with subependymal giant cell astrocytoma than females.[15][2] According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by MRI is recommended every 1-3 years among patients with tuberous sclerosis, even in the abscence of symptoms.[5][15] If left untreated, patients with subependymal giant cell astrocytoma may progress to cause seizures, occlusion of the foramen of Monro with subsequent elevated intracranial pressure and obstructive hydrocephalus, infection, stroke, and death.[17] Common complications of subependymal giant cell astrocytoma include obstructive hydrocephalus, brain herniation, intratumoral hemorrhage, and infection.[18][15] Prognosis of subependymal giant cell astrocytoma is generally poor.[19] Symptoms of subependymal giant cell astrocytoma include headache, seizures, vision loss, changes in speech, weakness in limbs, and sensory loss.[20][2][21] Common physical examination findings of subependymal giant cell astrocytoma include papilledema, vision field defects, developmental delay, mental retardation, aphasia, sensory loss, and hemiparesis.[22][2] Head CT scan and brain MRI may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the foramen of Monro, which is iso- or slightly hypoattenuating to the grey matter. Accompanying hydrocephalus may be present. There is marked enhancement on contrast administration.[23] On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration.[23] The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.[15][20]
Historical Perspective
Russell et al was the first scientist to coin the term "subependymal giant cell astrocytoma".[2]
Classification
There is no classification system established for subependymal giant cell astrocytoma.
Pathophysiology
Subependymal giant cell astrocytoma is believed to arise from a subependymal nodule present in the ventricular wall of a patient with tuberous sclerosis.[3][4] Genes involved in the pathogenesis of subependymal giant cell astrocytoma include TSC1 and TSC2. Subependymal giant cell astrocytoma is almost exclusively associated with tuberous sclerosis complex, which is an autosomal dominant disorder.[5] On gross pathology, subependymal giant cell astrocytoma is characterized by a large, fleshy, well-circumscribed intraventricular mass in the wall of the lateral ventricle near the foramen of Monro, that does not invade into the periventricular parenchyma.[6][7] On microscopic histopathological analysis, subependymal giant cell astrocytoma is characterized by three types of cells (fibrillated elongated spindle cells, swollen gemistocytic-like cells, and giant ganglion-like cells) with nuclear pseudoinclusions and rosettes, perivascular inflammatory cells, and glassy eosinophilic cytoplasm.[8][2] Subependymal giant cell astrocytoma is demonstrated by positivity to tumor markers such as GFAP, vimentin, S-100, neurofilament, and synaptophysin.[4][9][10][11]
Causes
Common causes of subependymal giant cell astrocytoma include genetic mutations. Common genetic mutations involved in the development of subependymal giant cell astrocytoma can be found here.[5]
Differentiating Subependymal Giant Cell Astrocytoma from other Diseases
Subependymal giant cell astrocytoma must be differentiated from subependymal nodule, ependymoma, colloid cyst, tuberculoma, intraventricular hemorrhage, glioblastoma multiforme, primary CNS lymphoma, and cerebral metastases.[12][13][14]
Epidemiology and Demographics
Subependymal giant cell astrocytoma is the most common central nervous system cancer in patients with tuberous sclerosis complex.[2] Approximately 10-20% of patients with tuberous sclerosis develop subependymal giant cell astrocytoma.[5] The incidence of subependymal giant cell astrocytoma is approximately 2.5 per 100,000 individuals in the United States.[5] Subependymal giant cell astrocytoma is a disease that tends to affect the pediatric, adolescent, and young adult population.[15][16] Males are more commonly affected with subependymal giant cell astrocytoma than females.[2][15]
Risk factors
The most potent risk factor in the development of subependymal giant cell astrocytoma is tuberous sclerosis.[24]
Screening
According to the International Tuberous Sclerosis Complex Consensus, screening for subependymal giant cell astrocytoma by MRI is recommended every 1-3 years among patients with tuberous sclerosis, even in the abscence of symptoms.[5][15]
Natural History, Complications and Prognosis
If left untreated, patients with subependymal giant cell astrocytoma may progress to cause seizures, occlusion of the foramen of Monro with subsequent elevated intracranial pressure and obstructive hydrocephalus, infection, stroke, and death.[17] Common complications of subependymal giant cell astrocytoma include obstructive hydrocephalus, brain herniation, intratumoral hemorrhage, and infection.[15][18] Prognosis of subependymal giant cell astrocytoma is generally poor.[19]
Diagnosis
Diagnostic Criteria
The diagnosis of subependymal giant cell astrocytoma is based on the International Tuberous Sclerosis Complex Consensus criteria, which include a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. Most subependymal giant cell astrocytomas will show avid enhancement after contrast administration; however, a growing subependymal lesion even in the absence of enhancement should be considered a subependymal giant cell astrocytoma.[5]
Staging
There is no established system for the staging of subependymal giant cell astrocytoma.[25]
History and Symptoms
When evaluating a patient for subependymal giant cell astrocytoma, you should take a detailed history of the presenting symptom (onset, duration, and progression), other associated symptoms, and a thorough family and past medical history review. Other specific areas of focus when obtaining the history include review of common associated conditions such as tuberous sclerosis.[5] Symptoms of subependymal giant cell astrocytoma include headache, seizures, vision loss, changes in speech, weakness in limbs, and sensory loss.[2][20][21]
Physical examination
Common physical examination findings of subependymal giant cell astrocytoma include papilledema, vision field defects, developmental delay, mental retardation, aphasia, sensory loss, and hemiparesis.[22][2]
Laboratory Findings
There are no diagnostic lab findings associated with subependymal giant cell astrocytoma.
CT
Head CT scan may be helpful in the diagnosis of subependymal giant cell astrocytoma. On head CT scan, subependymal giant cell astrocytoma is characterized by an intraventricular mass near the foramen of Monro, which is iso- or slightly hypoattenuating to the grey matter. Accompanying hydrocephalus may be present. There is marked enhancement on contrast administration.[23]
MRI
Brain MRI is helpful in the diagnosis of subependymal giant cell astrocytoma. On MRI, subependymal giant cell astrocytoma is characterized by hypo- to isointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging. There may be marked enhancement on contrast administration.[23]
Ultrasound
There are no ultrasound findings associated with subependymal giant cell astrocytoma.
Other Imaging Findings
There are no other imaging findings associated with subependymal giant cell astrocytoma.
Other Diagnostic Studies
There are no other diagnostic studies associated with subependymal giant cell astrocytoma.
Treatment
Medical Therapy
The predominant therapy for subependymal giant cell astrocytoma is surgical resection. Adjunctive chemotherapy may be required.[15][20]
Surgery
Surgery is the mainstay of treatment for subependymal giant cell astrocytoma. Gamma knife radiosurgery has also been used to treat subependymal giant cell astrocytoma.[15]
Primary Prevention
There is no established method for prevention of subependymal giant cell astrocytoma.
Secondary Prevention
Effective measures for the secondary prevention of subependymal giant cell astrocytoma include brain imaging, preferably magnetic resonance imaging with and without contrast, which should be performed every 1 to 3 years until the age of 25 years in every patient with tuberous sclerosis.[5]
References
- ↑ Introduction to subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 8, 2015
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 Ouyang, Taohui; Zhang, Na; Benjamin, Thomas; Wang, Long; Jiao, Jiantong; Zhao, Yiqing; Chen, Jian (2014). "Subependymal giant cell astrocytoma: current concepts, management, and future directions". Child's Nervous System. 30 (4): 561–570. doi:10.1007/s00381-014-2383-x. ISSN 0256-7040.
- ↑ 3.0 3.1 Pathology of subependymal giant cell astrocytoma. Dr. Bruno Di Muzio and Dr. Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 2, 2015
- ↑ 4.0 4.1 4.2 4.3 Jung TY, Kim YH, Jung S, Baek HJ, Lee KH (2015). "The clinical characteristics of subependymal giant cell astrocytoma: five cases". Brain Tumor Res Treat. 3 (1): 44–7. doi:10.14791/btrt.2015.3.1.44. PMC 4426277. PMID 25977907.
- ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 Roth, Jonathan; Roach, E. Steve; Bartels, Ute; Jóźwiak, Sergiusz; Koenig, Mary Kay; Weiner, Howard L.; Franz, David N.; Wang, Henry Z. (2013). "Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012". Pediatric Neurology. 49 (6): 439–444. doi:10.1016/j.pediatrneurol.2013.08.017. ISSN 0887-8994.
- ↑ 6.0 6.1 Final Diagnosis-Subependymal giant cell astrocytoma. upmc.edu 2015. http://path.upmc.edu/cases/case179/dx.html. Accessed on November 4, 2015
- ↑ 7.0 7.1 Gross features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015
- ↑ 8.0 8.1 Microscopic features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on November 2, 2015
- ↑ 9.0 9.1 IHC features of subependymal giant cell astrocytoma. Libre pathology 2015. http://librepathology.org/wiki/index.php/Subependymal_giant_cell_astrocytoma. Accessed on October 2, 2015
- ↑ 10.0 10.1 Hirose T, Scheithauer BW, Lopes MB, Gerber HA, Altermatt HJ, Hukee MJ; et al. (1995). "Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study". Acta Neuropathol. 90 (4): 387–99. PMID 8546029.
- ↑ 11.0 11.1 Lopes MB, Altermatt HJ, Scheithauer BW, Shepherd CW, VandenBerg SR (1996). "Immunohistochemical characterization of subependymal giant cell astrocytomas". Acta Neuropathol. 91 (4): 368–75. PMID 8928613.
- ↑ 12.0 12.1 Differential diagnosis of subependymal giant cell astrocytoma. Dr. Bruno Di Muzio and Dr. Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015
- ↑ 13.0 13.1 Intraventricular masses. Dr. Jeremy Jones and Dr. Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/intraventricular-masses-an-approach-1. Accessed on November 4, 2015
- ↑ 14.0 14.1 Differential diagnosis of pineal region masses. Dr. Henry Knipe and Dr. Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/pineal-region-mass. Accessed on November 4, 2015
- ↑ 15.00 15.01 15.02 15.03 15.04 15.05 15.06 15.07 15.08 15.09 15.10 Campen CJ, Porter BE (2011). "Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update". Curr Treat Options Neurol. 13 (4): 380–5. doi:10.1007/s11940-011-0123-z. PMC 3130084. PMID 21465222.
- ↑ 16.0 16.1 Epidemiology of subependymal giant cell astrocytoma. Dr Bruno Di Muzio and Dr Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015
- ↑ 17.0 17.1 Clinical presentation of subependymal giant cell astrocytoma. Dr. Bruno Di Muzio and Dr. Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 2, 2015
- ↑ 18.0 18.1 Surgery of subependymal giant cell astrocytoma. Wikipedia 2015. https://en.wikipedia.org/wiki/Subependymal_giant_cell_astrocytoma. Accessed on November 4, 2015
- ↑ 19.0 19.1 Nabbout, R; Santos, M; Rolland, Y; Delalande, O; Dulac, O; Chiron, C (1999). "Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis". Journal of Neurology, Neurosurgery & Psychiatry. 66 (3): 370–375. doi:10.1136/jnnp.66.3.370. ISSN 0022-3050.
- ↑ 20.0 20.1 20.2 20.3 Jóźwiak S, Nabbout R, Curatolo P, participants of the TSC Consensus Meeting for SEGA and Epilepsy Management (2013). "Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations". Eur J Paediatr Neurol. 17 (4): 348–52. doi:10.1016/j.ejpn.2012.12.008. PMID 23391693.
- ↑ 21.0 21.1 Symptoms of subependymal giant cell astrocytoma. University of Pittsburgh Medical Center 2015. http://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/pages/subependymal-giant-cell-astrocytoma.aspx. Accessed on November 5, 2015
- ↑ 22.0 22.1 Sasongko, Teguh Haryo; Ismail, Nur Farrah Dila; Nik Abdul Malik, Nik Mohamad Ariff; Zabidi-Hussin, Z. A. M. H. (2015). "Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis". Orphanet Journal of Rare Diseases. 10 (1). doi:10.1186/s13023-015-0317-7. ISSN 1750-1172.
- ↑ 23.0 23.1 23.2 23.3 Radiographic CT features of subependymal giant cell astrocytoma. Dr Bruno Di Muzio and Dr Jeremy Jones et al. Radiopaedia 2015. http://radiopaedia.org/articles/subependymal-giant-cell-astrocytoma. Accessed on November 4, 2015
- ↑ Roth J, Roach ES, Bartels U, Jóźwiak S, Koenig MK, Weiner HL; et al. (2013). "Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012". Pediatr Neurol. 49 (6): 439–44. doi:10.1016/j.pediatrneurol.2013.08.017. PMID 24138953.
- ↑ Chandana SR, Movva S, Arora M, Singh T (2008). "Primary brain tumors in adults". Am Fam Physician. 77 (10): 1423–30. PMID 18533376.